Related references
Note: Only part of the references are listed.Lipid storage disorders block lysosomal trafficking by inhibiting a TRP channel and lysosomal calcium release
Dongbiao Shen et al.
NATURE COMMUNICATIONS (2012)
Ca2+ Homeostasis Modulation Enhances the Amenability of L444P Glucosylcerebrosidase to Proteostasis Regulation in Patient-Derived Fibroblasts
Fan Wang et al.
ACS CHEMICAL BIOLOGY (2011)
Temporal and cell-specific deletion establishes that neuronal Npc1 deficiency is sufficient to mediate neurodegeneration
Ting Yu et al.
HUMAN MOLECULAR GENETICS (2011)
An Exacerbate-reverse Strategy in Yeast Identifies Histone Deacetylase Inhibition as a Correction for Cholesterol and Sphingolipid Transport Defects in Human Niemann-Pick Type C Disease
Andrew B. Munkacsi et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2011)
Anatomically Defined Neuron-Based Rescue of Neurodegenerative Niemann-Pick Type C Disorder
Manuel E. Lopez et al.
JOURNAL OF NEUROSCIENCE (2011)
Unesterified Cholesterol Accumulation in Late Endosomes/Lysosomes Causes Neurodegeneration and Is Prevented by Driving Cholesterol Export from This Compartment
Amal Aqul et al.
JOURNAL OF NEUROSCIENCE (2011)
Histone deacetylase inhibitor treatment dramatically reduces cholesterol accumulation in Niemann-Pick type C1 mutant human fibroblasts
Nina H. Pipalia et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Conditional Niemann-Pick C mice demonstrate cell autonomous Purkinje cell neurodegeneration
Matthew J. Elrick et al.
HUMAN MOLECULAR GENETICS (2010)
Clinical experience with miglustat therapy in pediatric patients with Niemann Pick disease type C: A case series
M. Pineda et al.
MOLECULAR GENETICS AND METABOLISM (2010)
Endoplasmic reticulum Ca2+ increases enhance mutant glucocerebrosidase proteostasis
Derrick Sek Tong Ong et al.
NATURE CHEMICAL BIOLOGY (2010)
Niemann-Pick disease type C
Marie T. Vanier
ORPHANET JOURNAL OF RARE DISEASES (2010)
Endocytosis of beta-cyclodextrins is responsible for cholesterol reduction in Niemann-Pick type C mutant cells
Anton I. Rosenbaum et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat
Ed Wraith
Therapeutics and Clinical Risk Management (2010)
Activating Mutations of the TRPML1 Channel Revealed by Proline-scanning Mutagenesis
Xian-ping Dong et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
Chronic Cyclodextrin Treatment of Murine Niemann-Pick C Disease Ameliorates Neuronal Cholesterol and Glycosphingolipid Storage and Disease Progression
Cristin D. Davidson et al.
PLOS ONE (2009)
Cyclodextrin overcomes deficient lysosome-to-endoplasmic reticulum transport of cholesterol in Niemann-Pick type C cells
Lina Abi-Mosleh et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-/- mouse
Benny Liu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
NPC-db, a Niemann-Pick type C disease gene variation database
Heiko Runz et al.
HUMAN MUTATION (2008)
Niemann-Pick type C1I1061T mutant encodes a functional protein that is selected for endoplasmic reticulum-associated degradation due to protein misfolding
Mark E. Gelsthorpe et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
Partial restoration of mutant enzyme homeostasis in three distinct lysosomal storage disease cell lines by altering calcium homeostasis
Ting-Wei Mu et al.
PLOS BIOLOGY (2008)
Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study
Marc C. Patterson et al.
LANCET NEUROLOGY (2007)
Autophagy in Niemann-Pick C disease is dependent upon Beclin-1 and responsive to lipid trafficking defects
Chris D. Pacheco et al.
HUMAN MOLECULAR GENETICS (2007)
Automated microscopy screening for compounds that partially revert cholesterol accumulation in Niemann-Pick C cells
NH Pipalia et al.
JOURNAL OF LIPID RESEARCH (2006)
Niemann-Pick type C disease involves disrupted neurosteroidogenesis and responds to allopregnanolone
LD Griffin et al.
NATURE MEDICINE (2004)
NPC1 and NPC2 regulate cellular cholesterol homeostasis through generation of low density lipoprotein cholesterol-derived oxysterols
A Frolov et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Accumulation of cholera toxin and GM1 ganglioside in the early endosome of Niemann-Pick C1-deficient cells
Y Sugimoto et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2001)
Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1
XF Sun et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Identification of HE1 as the second gene of Niemann-Pick C disease
S Naureckiene et al.
SCIENCE (2000)
Topological analysis of Niemann-Pick C1 protein reveals that the membrane orientation of the putative sterol-sensing domain is identical to those of 3-hydroxy-3-methylglutaryl-CoA reductase and sterol regulatory element binding protein cleavage-activating protein
JP Davies et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)
Share Paper
